APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912717
rs121912717 		1.000 0.040 11 116835948 stop gained C/A;T snv 4.0E-06; 1.6E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs777407596
rs777407596 		11 116837145 missense variant C/G;T snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs12721026
rs12721026 		1.000 0.080 11 116835452 upstream gene variant T/G snv 4.9E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.030 1.000 3 2011 2018
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2019
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2017
dbSNP: rs1264352930
rs1264352930 		0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2012 2015
dbSNP: rs1264352930
rs1264352930 		0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2012 2015
dbSNP: rs2070665
rs2070665 		11 116836968 intron variant A/C;G snv 0.85
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5072
rs5072 		11 116836867 intron variant A/G snv 0.89
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5072
rs5072 		11 116836867 intron variant A/G snv 0.89
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5072
rs5072 		11 116836867 intron variant A/G snv 0.89
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs777407596
rs777407596 		11 116837145 missense variant C/G;T snv 4.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12721025
rs12721025 		1.000 0.040 11 116835331 upstream gene variant G/A snv 4.7E-02
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		Digestive System Diseases 0.800 1.000 2 2013 2019
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2013 2013
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1384889210
rs1384889210 		0.827 0.040 11 116836193 missense variant C/A snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1384889210
rs1384889210 		0.827 0.040 11 116836193 missense variant C/A snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs632153
rs632153 		11 116839523 intron variant G/C;T snv
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs670
rs670 		0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2070665
rs2070665 		11 116836968 intron variant A/C;G snv 0.85
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs5069
rs5069 		1.000 0.080 11 116837538 5 prime UTR variant G/A snv 0.11
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs974389711
rs974389711 		1.000 0.040 11 116836210 synonymous variant C/T snv
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016